期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on ......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
The mitogen-activating protein kinase (MAPK) pathway is central for cell proliferation, differentiation, and senescence. In human, germline defects of......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Transient-receptor potential (TRP) channels comprise a diverse family of ion channels, which play important roles in regulation of intracellular calci......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Alternative splicing (AS) is common in gene expression, and abnormal splicing often results in several cancers. Overall survival-associated splicing e......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), t......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Single-stranded ends of double-stranded DNA (jagged ends) are more abundant in urinary DNA than in plasma DNA. However, the lengths of jagged ends in ......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Large-scale genome-wide associations comprising multiple studies have identified hundreds of genetic loci commonly associated with hyperlipidemia-rela......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
The 3 ' untranslated region (3 '-UTR) is the vital element regulating gene expression, but most studies have focused on variations in RNA-binding prot......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significan......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Structural anomalies of the central nervous system (CNS) are one of the most common fetal anomalies found during prenatal imaging. However, the genomi......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndrome......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
ANO5 encodes transmembrane protein 16E (TMEM16E), an intracellular calcium-activated chloride channel in the endoplasmic reticulum. Mutations in ANO5 ......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or ......
期刊： NPJ GENOMIC MEDICINE, 2022; 7 (1)
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier fr......
期刊： NPJ GENOMIC MEDICINE, 2021; 6 (1)
The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for ......
